GENETIC AND PHENOTYPIC CHARACTERIZATION OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)

Pubblicazioni Scientifiche

• 2004 NEUROLOGICAL SCIENCES

  Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies

• 1997 NEUROLOGY

  Gene dosage effects in hereditary peripheral neuropathy - Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies

• 1999 ANNALS OF THE NEW YORK ACADEMY OF SCIENCES

  Heterozygous null mutation in the P-0 gene associated with mild Charcot-Marie-Tooth disease

• 2000 NEUROLOGY

  Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

• 1999 MUSCLE & NERVE

  Charcot-Marie-Tooth disease and related neuropathies: Molecular basis for distinction and diagnosis

• 1998 MUSCLE & NERVE

  Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy

• 1999 NEUROLOGY

  Charcot-Marie-Tooth disease type 2 and P0 gene mutations